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Aliases for AUP1 Gene

Aliases for AUP1 Gene

  • AUP1, Lipid Droplet Regulating VLDL Assembly Factor 2 3 5
  • Ancient Ubiquitous Protein 1 2

External Ids for AUP1 Gene

Previous GeneCards Identifiers for AUP1 Gene

  • GC02M074891
  • GC02M074966
  • GC02M074711
  • GC02M074728
  • GC02M074665
  • GC02M074607
  • GC02M074753
  • GC02M074490

Summaries for AUP1 Gene

Entrez Gene Summary for AUP1 Gene

  • The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for AUP1 Gene

AUP1 (AUP1, Lipid Droplet Regulating VLDL Assembly Factor) is a Protein Coding gene. Diseases associated with AUP1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B.

UniProtKB/Swiss-Prot for AUP1 Gene

  • May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

Gene Wiki entry for AUP1 Gene

Additional gene information for AUP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AUP1 Gene

Genomics for AUP1 Gene

GeneHancer (GH) Regulatory Elements for AUP1 Gene

Promoters and enhancers for AUP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I074528 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.1 -0.4 -386 4.4 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC GLIS1 NBN AUP1 HTRA2 LBX2 TTC31 CCDC142 PCGF1 DUSP11 MOB1A MOGS MTHFD2
GH02I074454 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.5 +72.8 72831 5.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 WBP1 INO80B PCGF1 TTC31 AUP1 MOGS CCDC142 DUSP11 ENSG00000273245 LBX2
GH02I074196 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.6 +331.2 331192 3.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ENSG00000279070 MTHFD2 PCGF1 DUSP11 INO80B ENSG00000273245 WBP1 AUP1 TTC31 MOB1A
GH02I074119 Promoter/Enhancer 1.6 Ensembl ENCODE 26.4 +409.6 409577 1.6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 FNBP1P1 LOC107985899 PCGF1 CCDC142 TTC31 DUSP11 ENSG00000273245 AUP1 MOGS WBP1
GH02I074570 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26.4 -42.9 -42888 4.3 HDGF HDAC1 PKNOX1 FOXA2 ARID4B BMI1 BATF IRF4 RAD21 ZBTB40 AUP1 MOGS PCGF1 HTRA2 DOK1 TTC31 CCDC142 DUSP11 LBX2-AS1 MOB1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AUP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AUP1 gene promoter:

Genomic Locations for AUP1 Gene

Genomic Locations for AUP1 Gene
chr2:74,526,645-74,529,939
(GRCh38/hg38)
Size:
3,295 bases
Orientation:
Minus strand
chr2:74,753,772-74,757,066
(GRCh37/hg19)

Genomic View for AUP1 Gene

Genes around AUP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AUP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AUP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AUP1 Gene

Proteins for AUP1 Gene

  • Protein details for AUP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y679-AUP1_HUMAN
    Recommended name:
    Ancient ubiquitous protein 1
    Protein Accession:
    Q9Y679
    Secondary Accessions:
    • C0H5W8
    • Q9H866
    • Q9UNQ6
    • Q9Y685

    Protein attributes for AUP1 Gene

    Size:
    476 amino acids
    Molecular mass:
    53028 Da
    Quaternary structure:
    • Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with the cytoplasmic tail of ITGA2B, ITGA1, ITGA2, ITGA5, ITGAV and ITGAM.
    SequenceCaution:
    • Sequence=AAH33646.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AUP1 Gene

    Alternative splice isoforms for AUP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AUP1 Gene

Post-translational modifications for AUP1 Gene

  • Ubiquitination at Lys209, Lys316, posLast=330330, posLast=335335, and posLast=443443

Other Protein References for AUP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AUP1 Gene

Domains & Families for AUP1 Gene

Gene Families for AUP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for AUP1 Gene

Suggested Antigen Peptide Sequences for AUP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y679

UniProtKB/Swiss-Prot:

AUP1_HUMAN :
  • Belongs to the AUP1 family.
Family:
  • Belongs to the AUP1 family.
genes like me logo Genes that share domains with AUP1: view

Function for AUP1 Gene

Molecular function for AUP1 Gene

GENATLAS Biochemistry:
ancient ubiquitous protein 1,43kDa,homolog to mouse Aup1 and C elegans hypothetical protein F44b9.5
UniProtKB/Swiss-Prot Function:
May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

Gene Ontology (GO) - Molecular Function for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23840749
GO:0043130 ubiquitin binding IBA --
GO:0097027 ubiquitin-protein transferase activator activity IBA --
genes like me logo Genes that share ontologies with AUP1: view
genes like me logo Genes that share phenotypes with AUP1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AUP1 Gene

Localization for AUP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUP1 Gene

Endoplasmic reticulum membrane; Single-pass type III membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AUP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000839 Hrd1p ubiquitin ligase ERAD-L complex IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AUP1: view

Pathways & Interactions for AUP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AUP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ubiquitin-dependent ERAD pathway IBA --
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with AUP1: view

No data available for Pathways by source and SIGNOR curated interactions for AUP1 Gene

Drugs & Compounds for AUP1 Gene

No Compound Related Data Available

Transcripts for AUP1 Gene

Unigene Clusters for AUP1 Gene

Ancient ubiquitous protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AUP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - - - - -
SP6: - - -
SP7: - -
SP8: - - - - - - - - -
SP9:
SP10: -
SP11: -
SP12:
SP13:

Relevant External Links for AUP1 Gene

GeneLoc Exon Structure for
AUP1
ECgene alternative splicing isoforms for
AUP1

Expression for AUP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AUP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUP1 Gene

This gene is overexpressed in Breast (39.4) and Bone (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AUP1 Gene



Protein tissue co-expression partners for AUP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AUP1 Gene:

AUP1

SOURCE GeneReport for Unigene cluster for AUP1 Gene:

Hs.411480

mRNA Expression by UniProt/SwissProt for AUP1 Gene:

Q9Y679-AUP1_HUMAN
Tissue specificity: Detected in blood platelets and leukocytes (at protein level). Ubiquitous. Highly expressed in placenta, liver, kidney, skeletal muscle, heart and brain.

Evidence on tissue expression from TISSUES for AUP1 Gene

  • Nervous system(4.8)
  • Skin(4.6)
  • Blood(4.4)
  • Eye(4.4)
  • Lung(2.8)
  • Intestine(2.6)
  • Liver(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AUP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AUP1 Gene

Orthologs for AUP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AUP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AUP1 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia AUP1 33 34
  • 92.72 (n)
cow
(Bos Taurus)
Mammalia AUP1 33 34
  • 91.22 (n)
rat
(Rattus norvegicus)
Mammalia Aup1 33
  • 90.41 (n)
mouse
(Mus musculus)
Mammalia Aup1 33 16 34
  • 89.67 (n)
chicken
(Gallus gallus)
Aves AUP1 33 34
  • 64.73 (n)
lizard
(Anolis carolinensis)
Reptilia AUP1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aup1 33
  • 59.96 (n)
zebrafish
(Danio rerio)
Actinopterygii aup1 33 34
  • 58.44 (n)
wufc37d06 33
worm
(Caenorhabditis elegans)
Secernentea F44B9.5 33 34
  • 41.64 (n)
Species where no ortholog for AUP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AUP1 Gene

ENSEMBL:
Gene Tree for AUP1 (if available)
TreeFam:
Gene Tree for AUP1 (if available)

Paralogs for AUP1 Gene

(1) SIMAP similar genes for AUP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AUP1: view

No data available for Paralogs for AUP1 Gene

Variants for AUP1 Gene

Sequence variations from dbSNP and Humsavar for AUP1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519081 pathogenic, 3-methylglutaconic aciduria, type VIII 74,531,106(-) G/C upstream_transcript_variant
rs1057519082 pathogenic, 3-methylglutaconic aciduria, type VIII 74,530,927(-) TGC/CAT upstream_transcript_variant
rs1183739 likely-benign, Parkinson Disease, Dominant 74,529,421(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs149169879 uncertain-significance, Parkinson Disease, Dominant 74,530,737(-) A/G upstream_transcript_variant
rs150047108 likely-benign, Parkinson Disease, Dominant 74,530,221(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for AUP1 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for AUP1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AUP1 Gene

Human Gene Mutation Database (HGMD)
AUP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AUP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AUP1 Gene

Disorders for AUP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AUP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy type 2b
  • muscular dystrophy, limb-girdle, type 2b
- elite association - COSMIC cancer census association via MalaCards
Search AUP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AUP1

genes like me logo Genes that share disorders with AUP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AUP1 Gene

Publications for AUP1 Gene

  1. Ancient ubiquitous protein 1 binds to the conserved membrane-proximal sequence of the cytoplasmic tail of the integrin alpha subunits that plays a crucial role in the inside-out signaling of alpha IIbbeta 3. (PMID: 12042322) Kato A … Oshimi K (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. (PMID: 18711132) Mueller B … Ploegh HL (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 58

Products for AUP1 Gene

Sources for AUP1 Gene

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